In-depth insights into various childhood syndromes and disorders.
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Emanuel syndrome is a rare chromosomal condition, believed to have been diagnosed in more than 100 people to date. Some of its symptoms may be life-threatening in infancy. Severe to profound intellectual disability is one of the most prominent symptoms of the syndrome. Syndrome Synonyms:Supernumerary Der(22)t(11;22) Syndrome The syndrome is caused by the extra genetic […]
Epileptic encephalopathies, Early Infantile are a group of rare genetic disorders consisting of seizures (all types, but predominantly tonic seizures, and spasms), with electroencephalographic changes, and they may be refractory to treatment. Age of onset is often before the first year of life and usually occurs in the days following birth. This syndrome is also […]
Fabry Disease syndrome occurs mainly in males and is the result of mutations in the genes that produce the enzyme alpha-galactosidase A. The disease is considered a multi-system, progressive disorder and a lysosomal storage disease. The syndrome is the result of a defective GLA gene, responsible for producing the enzyme alpha-galactosidase A. This enzyme is […]
Feingold syndrome is a rare genetic syndrome that affects multiple parts of the body. There are two types of the condition: Type 1 and Type 2, each with their own genetic cause. Type 1 is the more common form of the syndrome. Syndrome Synonyms:Brachydactyly with Short Stature and Microcephaly; Digital Anomalies with Short Palpebral Fissures […]
Fetal Alcohol syndrome is caused when a fetus is exposed to alcohol during the pregnancy. It causes damage to both growth and brain development. Characteristics of the syndrome include distinct and unique facial features, a short stature, low weight at birth, and continued low growth, as well as issues with coordination, learning, and development. The […]
Fetal Valproate Syndrome is a condition that can develop when an unborn baby is exposed to valproic acid or sodium valproate in the first trimester. Sodium valproate is used as a common medication for epilepsy, migraine, and bipolar disorder. Not all babies exposed are affected by the syndrome, but exposure increases the risk. Exposure to […]
Filippi syndrome is a rare genetic syndrome. Since 1985 there have been less than 25 cases diagnosed worldwide, to date. The syndrome is characterized by its distinct facial features, intellectual disability, and webbing of the fingers and toes. Syndrome Synonyms:Scott Craniodigital Syndrome with Mental Retardation; Syndactyly, Type I, with Microcephaly And Mental Retardation Changes in […]
Floating-Harbor syndrome is a genetic condition that presents with unique facial features and characteristics. Other main symptoms include proportionate short stature, delayed bone age and delayed speech development. It is named for the hospitals in California where it was first described. Mutations in the SRCAP gene located on chromosome 16 are responsible for the syndrome. […]
Focal Dermal Hypoplasia, commonly known as Goltz syndrome, is a rare genetic disorder that primarily affects females. 90% of those diagnosed with the syndrome are female. Males may have only very mild symptoms. Generally, the syndrome in its full form is fatal for males very early in their development. As a multi-system disorder, it affects […]